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RLN3 relaxin 3 [ Homo sapiens (human) ]

Gene ID: 117579, updated on 23-Nov-2021

Summary

Official Symbol
RLN3provided by HGNC
Official Full Name
relaxin 3provided by HGNC
Primary source
HGNC:HGNC:17135
See related
Ensembl:ENSG00000171136 MIM:606855
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
H3; RXN3; ZINS4; insl7
Summary
This gene encodes a member of the relaxin family of insulin-like hormones that is expressed predominantly in the brain and plays a role in physiological processes such as stress, memory and appetite regulation. The encoded protein is a precursor that is proteolytically processed to generate a heterodimeric mature form consisting A and B chains interlinked by disulfide bonds. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See RLN3 in Genome Data Viewer
Location:
19p13.12
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (14028148..14031551)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (14138960..14142363)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene regulatory factor X1 Neighboring gene uncharacterized LOC107985309 Neighboring gene CRISPRi-validated cis-regulatory element chr19.2299 Neighboring gene interleukin 27 receptor subunit alpha Neighboring gene paralemmin 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables hormone activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular region TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
relaxin-3
Names
insulin-like peptide 7
insulin-like peptide INSL7
prorelaxin H3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001311197.2NP_001298126.1  relaxin-3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC022098, AY358181, BC110069, BC140935
    Consensus CDS
    CCDS82304.1
    UniProtKB/Swiss-Prot
    Q8WXF3
    UniProtKB/TrEMBL
    B2RU28, K7ENX1
    Related
    ENSP00000467130.1, ENST00000585987.1
    Conserved Domains (1) summary
    cd04365
    Location:3155
    IlGF_relaxin_like; IlGF_like family, relaxin_like subgroup, specific to vertebrates. Members include a number of active peptides including (pro)relaxin, mammalian Leydig cell-specific insulin-like peptide (gene INSL3), early placenta insulin-like peptide (ELIP; gene INSL4), ...
  2. NM_080864.4NP_543140.1  relaxin-3 preproprotein

    See identical proteins and their annotated locations for NP_543140.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC022098, AY358181, BC140935
    Consensus CDS
    CCDS12302.1
    UniProtKB/Swiss-Prot
    Q8WXF3
    UniProtKB/TrEMBL
    B2RU28
    Related
    ENSP00000397415.2, ENST00000431365.3
    Conserved Domains (1) summary
    cd04365
    Location:31142
    IlGF_relaxin_like; IlGF_like family, relaxin_like subgroup, specific to vertebrates. Members include a number of active peptides including (pro)relaxin, mammalian Leydig cell-specific insulin-like peptide (gene INSL3), early placenta insulin-like peptide (ELIP; gene INSL4), ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    14028148..14031551
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160022.1 Reference GRCh38.p13 PATCHES

    Range
    239989..243392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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